PT  - JOURNAL ARTICLE
AU  - Ferenchak, Kevin
AU  - Guerin, Julie B.
AU  - Nayab, Asra
AU  - Keating, Gesina F.
AU  - Lopour, Madeline Q.
AU  - Dalvin, Lauren A.
AU  - Schimmenti, Lisa A.
AU  - Scruggs, Brittni A.
AU  - Silvera, V. Michelle
TI  - Norrie Disease: Cochlear Enhancement and Cerebellar Signal Abnormalities
AID  - 10.3174/ajnr.A8707
DP  - 2025 Feb 18
TA  - American Journal of Neuroradiology
PG  - ajnr.A8707
4099  - http://www.ajnr.org/content/early/2025/02/18/ajnr.A8707.short
4100  - http://www.ajnr.org/content/early/2025/02/18/ajnr.A8707.full
AB  - Norrie Disease is a rare X-linked condition characterized by early childhood blindness and later onset sensorineural hearing loss. We report two male infants with genetically confirmed Norrie Disease and characteristic ocular abnormalities consisting of bilateral funnel retinal detachments, anterior segment dysgenesis, and/or buphthalmos and microphthalmia. MRI demonstrated enhancement of the cranial nerves, cochleae, and cerebellum with cerebellar restricted diffusion. Intracranial findings mimicked meningitis, labyrinthitis, and cerebellitis. Neither infant showed clinical signs of infection. Labyrinthine and cerebellar signal abnormalities have not been previously reported in the context of Norrie Disease. Clinicians should consider Norrie Disease when encountering such findings and be aware that the described intracranial features of Norrie Disease do not necessarily indicate central nervous system infection.ABBREVIATIONS: ND, Norrie disease; NDP, Norrin Cystine Knot Growth Factor NDP; PFV, persistent fetal vasculature; FEVR, familial exudative vitreoretinopathy; ROP, retinopathy of prematurity